Canonical Allele Identifier: PA2827865635
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 217366
ClinVar RCV Id: RCV000201274 RCV000417032
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341440.1:p.Met316Thr
CA279176
NM_001354511.2:c.947T>C